Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome 1281843005
SNOMED CT code
| SNOMED code | 1281843005 |
|---|---|
| name | Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome |
| status | active |
| date introduced | 2023-05-31 |
| fully specified name(s) | Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder) |
| synonyms |
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| attributes - group6 | |
| Interprets | Hearing 47078008 |
| Has interpretation | Decreased 1250004 |
| attributes - group1 | |
| Occurrence | Congenital 255399007 |
| Finding site | Nipple structure 24142002 |
| Associated morphology | Morphologically abnormal structure 49755003 |
| Pathological process | Pathological developmental process 308490002 |
| attributes - group2 | |
| Occurrence | Congenital 255399007 |
| Finding site | External ear structure 28347008 |
| Associated morphology | Morphologically abnormal structure 49755003 |
| Pathological process | Pathological developmental process 308490002 |
| attributes - group3 | |
| Occurrence | Congenital 255399007 |
| Finding site | Branchial arch structure 68959004 |
| Associated morphology | Morphologically abnormal structure 49755003 |
| Pathological process | Pathological developmental process 308490002 |
| attributes - group4 | |
| Occurrence | Congenital 255399007 |
| Finding site | Thyroid structure 69748006 |
| Associated morphology | Morphologically abnormal structure 49755003 |
| Pathological process | Pathological developmental process 308490002 |
| attributes - group5 | |
| Occurrence | Congenital 255399007 |
| Finding site | Structure of choana 71717001 |
| Associated morphology | Congenital atresia 56457002 |
| Pathological process | Pathological developmental process 308490002 |
| parents |
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| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Functional finding 118228005 Hearing finding 118230007 Decreased hearing 103276001 Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome 1281843005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Congenital disease 66091009 Congenital hearing disorder 95827002 Congenital anomaly of ear with impairment of hearing 111339003 Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome 1281843005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal dominant hereditary disorder 11164009 Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome 1281843005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Disorder of neck 118939000 Congenital anomaly of neck 40052002 Ear, face and neck congenital anomalies 204223000 Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome 1281843005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Disorder of head 118934005 Disorder of nose and nasopharynx 232339008 Congenital abnormality of nose and nasopharynx 282040001 Congenital atresia of nasopharynx 59423009 Choanal atresia 204508009 Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome 1281843005 SNOMED CT Concept 138875005 Clinical finding 404684003 Functional finding 118228005 Hearing finding 118230007 Hearing disorder 128540005 Hearing loss 15188001 Hearing loss associated with syndrome 232333009 Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome 1281843005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Disorder of body system 362965005 Disorder of breast 79604008 Disorder of nipple 237460007 Congenital abnormality of nipple 279014003 Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome 1281843005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Disorder of sensory organ 1279550006 Disorder of ear 25906001 Congenital malformation of ear 275259005 Congenital abnormality of external ear 282038006 Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome 1281843005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Disorder of neck 118939000 Disorder of thyroid gland 14304000 Congenital anomaly of the thyroid gland 32454003 Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome 1281843005 SNOMED CT Concept 138875005 Clinical finding 404684003 Ear and auditory finding 118236001 Disorder of auditory system 362966006 Auditory system hereditary disorder 362991006 Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome 1281843005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome 1281843005 SNOMED CT Concept 138875005 Clinical finding 404684003 Digestive system finding 386617003 Disorder of digestive system 53619000 Digestive system hereditary disorder 363080007 Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome 1281843005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Disorder of body system 362965005 Disorder of endocrine system 362969004 Hereditary disorder of endocrine system 363104002 Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome 1281843005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Disorder of embryonic structure 609521009 Developmental malformation of branchial arch 402810002 Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome 1281843005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Congenital malformation 276654001 Congenital malformation syndrome 400038003 Multiple system malformation syndrome 82354003 Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome 1281843005 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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